Links from Gene
Items: 1 to 20 of 1000
3.
rs1491456128 has merged into rs34433547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 6:164522628
(GRCh38)
6:164943661
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.167026/44210
(TOPMED)
T=0.176518/884
(1000Genomes)
T=0.179612/666
(TWINSUK)
T=0.187338/722
(ALSPAC)
- HGVS:
5.
rs1491296454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 6:164496702
(GRCh38)
6:164917735
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164496700:CGC:C,NC_000006.12:164496700:CGC:CGCGC
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00049/8
(
ALFA)
-=0.00068/3
(Estonian)
- HGVS:
6.
rs1491233641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCTCTATG
[Show Flanks]
- Chromosome:
- 6:164456913
(GRCh38)
6:164877947
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164456913:CTCTCTATG:CTCTCTATGCTCTCTATG
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTATGCTCTCTATG=0.000253/3
(
ALFA)
CTCTCTATG=0.000057/15
(TOPMED)
CTCTCTATG=0.000064/9
(GnomAD)
- HGVS:
8.
rs1490899200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:164457533
(GRCh38)
6:164878566
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164457532:C:T
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490826929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:164494920
(GRCh38)
6:164915953
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164494919:C:T
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490780246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:164463703
(GRCh38)
6:164884736
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164463702:T:C
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490764461 has merged into rs1369900039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 6:164461437
(GRCh38)
6:164882470
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164461436:AAAAAAA:AAAAAA,NC_000006.12:164461436:AAAAAAA:AAAAAAAA
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00055/1
(Korea1K)
- HGVS:
13.
rs1490726980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:164478715
(GRCh38)
6:164899748
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164478714:G:A
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000142/2
(TOMMO)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
- HGVS:
16.
rs1490555576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:164479181
(GRCh38)
6:164900214
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164479180:G:T
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490516449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:164465532
(GRCh38)
6:164886565
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164465531:G:A
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490443127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:164513261
(GRCh38)
6:164934294
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164513260:C:T
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490431942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:164501823
(GRCh38)
6:164922856
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164501822:G:A
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490321524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:164518163
(GRCh38)
6:164939196
(GRCh37)
- Canonical SPDI:
- NC_000006.12:164518162:C:T
- Gene:
- LOC107986667 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.001027/3
(KOREAN)
T=0.001092/2
(Korea1K)
- HGVS: